| Electrophysiologic evidence for anterior horn cell disease in amyoplasia. | |
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MedLine Citation:
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PMID: 20610128 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Amyoplasia is the most common subtype of arthrogryposis multiplex congenita. Children exhibit congenital muscle aplasia or hypoplasia, resulting in symmetric limb contractures that occur in a characteristic pattern. A high incidence of midforehead capillary hemangiomas, micrognathia, and minor genital anomalies also occurs with this disorder. The etiology and specific site of injury in amyoplasia remain unclear. Previous muscle biopsy and electrophysiologic studies could not differentiate between neurogenic or myogenic causes. We describe five children with amyoplasia. Four children demonstrated electrophysiologic features consistent with motor neuronopathy. A careful segmental needle electromyography study revealed variable involvement at different myotomes. We hypothesize that the anterior horn cell may represent the site of disease in a subset of children with amyoplasia. |
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Authors:
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John N Gaitanis; Hugh J McMillan; Allan Wu; Basil T Darras |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 43 ISSN: 1873-5150 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-07-08 Completed Date: 2011-01-14 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 142-7 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Neurology, Hasbro Children's Hospital, Brown Medical School, Providence, Rhode Island, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Arthrogryposis / complications*, diagnosis* Electromyography / methods* Female Humans Infant Infant, Newborn Male Motor Neuron Disease / complications*, diagnosis* Muscle, Skeletal / physiopathology Neural Conduction / physiology Neurologic Examination |
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